Case | Our case | Li et al. 2019 Case 6 | Cases summarized by Qian et al. 2018 |
---|---|---|---|
Age | 2.5y | 3y 8 m | 8.46y (±7.14) |
Gender | M | F | 4 M/10F |
Mutation | c.1283insC | c.1283insC | multiple variants |
Amino acid alteration | p.T429NfsX22 | p.T429NfsX22 | multiple variants |
Mutation type | Frameshift | Frameshift | nonsense/frameshift/missense |
Inheritance | De novo | De novo | De novo |
Onset age | 2y | 1y1m | 14.18 m (±15.46) |
EEG | Slow background waves, PS, GSW, hypsarrhythmia, spasms | hypsarrhythmia, MFD and spasms | including MFD, PS, GSW, Hypsarrhythmia, Abnormal background and other abnormal waveforms |
MRI | Normal | Normal | Some are normal. Some presented abnormalities including ventricular dilatation, white matter change and small hippocampal. |
Others | Eczema, speech delay | Mild developmental delay, poor speech, and mild hypotonia | – |